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Case-based learning: a case of maturity-onset diabetes of the young 5 (MODY5) due to 17q12 microdeletion with a diminished plasma glucagon level
Maturity-onset diabetes of the young type 5 (MODY5), causally associated with loss-of-function of the HNF1B gene, is a rare form of monogenic diabetes that has been underdiagnosed in part because microdeletions of chromosome 17q12 encompassing the HNF1B gene cannot be detected by sequencing-based approaches, which accounts for about 50% of MODY5 cases.
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Geïndexeerd uit **pmc** op 2026-11-13 (relevantie 1.00, niveau peer-reviewed).
Gegenereerd 2026-11-13, laatst gewijzigd
gisteren. Dedup-sleutel newdoc:374.
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Case-based learning: a case of maturity-onset diabetes of the young 5 (MODY5) due to 17q12 microdeletion with a diminished plasma glucagon level
peer-reviewed
· gepubliceerd 2025-01-01
· live pagina
Maturity-onset diabetes of the young type 5 (MODY5), causally associated with loss-of-function of the HNF1B gene, is a rare form of monogenic diabetes that has been underdiagnosed in part because microdeletions of chromosome 17q12 encompassing the HNF1B gene cannot be detected by sequencing-based approaches, which accounts for about 50% of MODY5 cases.
Ondersteunende documenten (1)
| Document | Bron | Gepubliceerd | Gezien | Relevantie |
|---|---|---|---|---|
| Case-based learning: a case of maturity-onset diabetes of the young... | pmc | 2025-01-01 | gisteren | 1.00 |